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NM_000883.4(IMPDH1):c.152del (p.Arg51fs) AND IMPDH1-Related Disorders

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 5, 2018
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000778819.4

Allele description [Variation Report for NM_000883.4(IMPDH1):c.152del (p.Arg51fs)]

NM_000883.4(IMPDH1):c.152del (p.Arg51fs)

Gene:
IMPDH1:inosine monophosphate dehydrogenase 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
7q32.1
Genomic location:
Preferred name:
NM_000883.4(IMPDH1):c.152del (p.Arg51fs)
HGVS:
  • NC_000007.14:g.128409479del
  • NG_009194.1:g.5504del
  • NM_000883.4:c.152delMANE SELECT
  • NM_001102605.2:c.147-113del
  • NM_001142576.2:c.152del
  • NM_001304521.2:c.146+277del
  • NM_183243.3:c.146+277del
  • NP_000874.2:p.Arg51fs
  • NP_001136048.1:p.Arg51fs
  • NC_000007.13:g.128049533del
  • NM_000883.3:c.152delG
Protein change:
R51fs
Links:
dbSNP: rs1460973466
NCBI 1000 Genomes Browser:
rs1460973466
Molecular consequence:
  • NM_000883.4:c.152del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001142576.2:c.152del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001102605.2:c.147-113del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001304521.2:c.146+277del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_183243.3:c.146+277del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
IMPDH1-Related Disorders
Identifiers:

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000915209Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 09 May 2019)		Uncertain significance
(Nov 5, 2018) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000915209.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The IMPDH1 c.152delG (p.Arg51AsnfsTer40) variant results in a frameshift and is predicted to result in premature termination of the protein. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. The variant is reported at a frequency of 0.000009 in the European (non-Finnish) population from the Genome Aggregation Database but this is based on one allele in a region of good sequencing coverage so the variant is presumed to be rare. Based on the variant frequency, disease prevalence, disease penetrance, and inheritance mode, this variant could not be ruled out of causing disease. Due to the potential impact of frameshift variants and the lack of clarifying evidence, p.Arg51AsnfsTer40 variant is classified as a variant of unknown significance but suspicious for pathogenicity for IMPDH1-related disorders. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 9, 2023